CSRP3 (cysteine and glycine rich protein 3)

2011-03-01  

Identity

HGNC
CSRP3
LOCATION
11p15.1
LOCUSID
8048
ALIAS
CLP,CMD1M,CMH12,CRP3,LMO4,MLP

Other Information

Locus ID:

NCBI: 8048
MIM: 600824
HGNC: 2472
Ensembl: ENSG00000129170

Variants:

dbSNP: 8048
ClinVar: 8048
TCGA: ENSG00000129170
COSMIC: CSRP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129170ENST00000265968P50461
ENSG00000129170ENST00000265968A2TDB8
ENSG00000129170ENST00000533783P50461
ENSG00000129170ENST00000533783A2TDB8
ENSG00000129170ENST00000647990A0A3B3IRI5
ENSG00000129170ENST00000648719A0A3B3IT61
ENSG00000129170ENST00000649235P50461
ENSG00000129170ENST00000649235A2TDB8
ENSG00000129170ENST00000649842A0A3B3ISZ2

Expression (GTEx)

0
100
200
300
400
500
600
700
800
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
368773462023Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy.0
368773462023Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy.0
352417522022LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.8
352417522022LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.8
319193352020Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.5
330357022020The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.5
319193352020Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.5
330357022020The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.5
314061092019MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling.25
314061092019MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling.25
300124242018First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.7
300124242018First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.7
248609832014Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.16
249344432014Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments.32
248609832014Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.16

Citation

Dessen P

CSRP3 (cysteine and glycine rich protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52140/haematological-explorer/gene-fusions-explorer/js/lib/all.min.js